Canonical Allele Identifier: CA2612222845

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393225-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393227dup , CM000673.2:g.6393227dup	GRCh38
NC_000011.9:g.6414457dup , CM000673.1:g.6414457dup	GRCh37
NC_000011.8:g.6371033dup	NCBI36
NG_011780.1:g.7803dup
NG_029615.1:g.31189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1103dup MANE Select	ENSP00000340409.4:p.Tyr369LeufsTer22
ENST00000342245.8:c.1103dup	ENSP00000340409.4:p.Tyr369LeufsTer22
ENST00000526280.1:c.321-390dup
ENST00000527275.5:c.1100dup	ENSP00000435350.1:p.Tyr368LeufsTer22
ENST00000531303.5:c.450dup	ENSP00000432625.1:p.Leu151SerfsTer17
ENST00000533123.5:c.1092-390dup	ENSP00000435950.1:n.1092-390dup
ENST00000534405.5:c.1143dup	ENSP00000434353.1:p.Leu382SerfsTer17
NM_000543.4:c.1103dup	NP_000534.3:p.Tyr369LeufsTer22
NM_001007593.2:c.1100dup	NP_001007594.2:p.Tyr368LeufsTer22
XM_005253075.3:c.1103dup	XP_005253132.1:p.Tyr369LeufsTer22
XM_011520303.1:c.1132-390dup	XP_011518605.1:n.1132-390dup
XM_011520304.1:c.1132-390dup	XP_011518606.1:n.1132-390dup
XR_930886.1:n.1441dup
NM_001318087.1:c.1103dup	NP_001305016.1:p.Tyr369LeufsTer22
NM_001318088.1:c.182dup	NP_001305017.1:p.Tyr62LeufsTer22
NM_001365135.1:c.1132-390dup	NP_001352064.1:n.1132-390dup
NR_027400.2:n.1277-390dup
NR_134502.1:n.635dup
XM_011520304.2:c.1132-390dup	XP_011518606.1:n.1132-390dup
XR_001747940.2:n.1268dup
XR_002957158.1:n.1268dup
NM_000543.5:c.1103dup MANE Select	NP_000534.3:p.Tyr369LeufsTer22
NM_001007593.3:c.1100dup	NP_001007594.2:p.Tyr368LeufsTer22
NM_001318087.2:c.1103dup	NP_001305016.1:p.Tyr369LeufsTer22
NM_001318088.2:c.182dup	NP_001305017.1:p.Tyr62LeufsTer22
NM_001365135.2:c.1132-390dup	NP_001352064.1:n.1132-390dup
NR_027400.3:n.1217-390dup
NR_134502.2:n.575dup